Mitochondrial dysfunction can result in a host of debilitating mitochondrial diseases or disorders characterized by poor growth, loss of muscle coordination, muscle weakness, visual problems, hearing problems, learning disabilities, heart disease, liver disease, kidney disease, gastrointestinal disorders, respiratory disorders, neurological problems, autonomic dysfunction, and/or dementia. In many instances, these mitochondrial diseases are caused by acquired or inherited mutations in mitochondrial DNA or in nuclear genes that code for mitochondrial components or for cellular components that act as quality control checkpoints of mitochondrial function. For example, the mitochondrial disease Parkinson's disease (PD) is a common neurodegenerative movement disorder affecting 1% of the population above the age of 60 that has been linked to acquired or spontaneous mutations in mitochondrial genes or nuclear genes relevant to mitochondrial function. PD is characterized by the preferential loss and degeneration of dopaminergic neurons of the substantia nigra (SN) pars compacta and formation of Lewy bodies. PD patients exhibit resting tremor, bradykinesia, muscle rigidity and postural instability.
Although research is ongoing, treatment options are currently limited; vitamins are frequently prescribed, though the evidence for their effectiveness is limited. Rescuing dysfunctional mitochondria provides one approach for treating mitochondrial diseases or disorders. Membrane penetrating antioxidants and pyruvate are two examples of treatment options for improving mitochondrial dysfunction. As such, there is a need for the development of new therapeutic agents and methods for the treatment of mitochondrial disease.